• A patient with typical thoracic-pelvicphalangeal dystrophy has survived to the age of 11 years with no pulmonary problem except a single episode of pneumonia at the age of 5 years. She has no evidence of renal disease. An associated ocular lesion resembled Leber's congenital amaurosis clinically but was different on electrophysiologic testing.
Bard LA, Bard PA, Owens GW, Hall BD. Retinal Involvement in Thoracic-Pelvic-Phalangeal Dystrophy. Arch Ophthalmol. 1978;96(2):278-281. doi:10.1001/archopht.1978.03910050146008